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2018 Journal Article CFHR5 nephropathy in a Greek-Cypriot Australian family: ancestry-informed precision medicineNg, Monica S. Y., McClymont, Kelly, McCallum, Naomi, Dua, Rahul, Holman, Katherine, Bennetts, Bruce, Ho, Gladys, Patel, Chirag and Mallett, Andrew J. (2018). CFHR5 nephropathy in a Greek-Cypriot Australian family: ancestry-informed precision medicine. Kidney International Reports, 3 (5), 1222-1228. doi: 10.1016/j.ekir.2018.04.007 |
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2018 Journal Article Antenatally diagnosed ADPKDAldridge, Melanie, Patel, Chirag, Mallett, Andrew and Trnka, Peter (2018). Antenatally diagnosed ADPKD. Kidney International Reports, 3 (5), 1214-1217. doi: 10.1016/j.ekir.2018.05.002 |
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2018 Journal Article Patient-iPSC-derived kidney organoids show functional validation of a ciliopathic renal phenotype and reveal underlying pathogenetic mechanismsForbes, Thomas A., Howden, Sara E., Lawlor, Kynan, Phipson, Belinda, Maksimovic, Jovana, Hale, Lorna, Wilson, Sean, Quinlan, Catherine, Ho, Gladys, Holman, Katherine, Bennetts, Bruce, Crawford, Joanna, Trnka, Peter, Oshlack, Alicia, Patel, Chirag, Mallett, Andrew, Simons, Cas and Little, Melissa H. (2018). Patient-iPSC-derived kidney organoids show functional validation of a ciliopathic renal phenotype and reveal underlying pathogenetic mechanisms. American Journal of Human Genetics, 102 (5), 816-831. doi: 10.1016/j.ajhg.2018.03.014 |
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2018 Journal Article Meeting report of the 2017 KidGen Renal Genetics SymposiumJayasinghe, Kushani, Quinlan, Cathy, Stark, Zornitza, Patel, Chirag, Sampson, Matthew G., Saleem, Moin and Mallett, Andrew J. (2018). Meeting report of the 2017 KidGen Renal Genetics Symposium. Human Genomics, 12 (1) 5, 1-6. doi: 10.1186/s40246-018-0137-7 |
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2017 Journal Article The increasing rates of acute interstitial nephritis in Australia: a single centre case seriesWilson, Gregory J., Kark, Adrian L., Francis, Leo P., Hoy, Wendy, Healy, Helen G. and Mallett, Andrew J. (2017). The increasing rates of acute interstitial nephritis in Australia: a single centre case series. BMC Nephrology, 18 (1) 329, 1-8. doi: 10.1186/s12882-017-0747-7 |
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2017 Journal Article Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disordersMallett, Andrew J., McCarthy, Hugh J., Ho, Gladys, Holman, Katherine, Farnsworth, Elizabeth, Patel, Chirag, Fletcher, Jeffery T., Mallawaarachchi, Amali, Quinlan, Catherine, Bennetts, Bruce and Alexander, Stephen I. (2017). Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders. Kidney International, 92 (6), 1493-1506. doi: 10.1016/j.kint.2017.06.013 |
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2017 Journal Article Mutations in mitochondrial DNA causing tubulointerstitial kidney diseaseConnor, Thomas M., Hoer, Simon, Mallett, Andrew, Gale, Daniel P., Gomez-Duran, Aurora, Posse, Viktor, Antrobus, Robin, Moreno, Pablo, Sciacovelli, Marco, Frezza, Christian, Duff, Jennifer, Sheerin, Neil S., Sayer, John A., Ashcroft, Margaret, Wiesener, Michael S., Hudson, Gavin, Gustafsson, Claes M., Chinnery, Patrick F. and Maxwell, Patrick H. (2017). Mutations in mitochondrial DNA causing tubulointerstitial kidney disease. PLoS Genetics, 13 (3) e1006620, e1006620. doi: 10.1371/journal.pgen.1006620 |
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2017 Journal Article Recurrent atypical haemolytic uraemic syndrome post kidney transplant due to a CD46 mutation in the setting of SMARCAL1-mediated inherited kidney diseaseChan, Samuel, Mallett, Andrew J., Patel, Chirag, Francis, Ross S., Johnson, David W., Mudge, David W. and Isbel, Nicole M. (2017). Recurrent atypical haemolytic uraemic syndrome post kidney transplant due to a CD46 mutation in the setting of SMARCAL1-mediated inherited kidney disease. Nephrology, 22 (S1), 11-14. doi: 10.1111/nep.12933 |
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2017 Journal Article Monoclonal gammopathy of renal significance triggering atypical haemolytic uraemic syndrome : MGRS triggering aHUSMahmood, Usman, Isbel, Nicole, Mollee, Peter, Mallett, Andrew, Govindarajulu, Sridevi and Francis, Ross (2017). Monoclonal gammopathy of renal significance triggering atypical haemolytic uraemic syndrome : MGRS triggering aHUS. Nephrology, 22 (S1), 15-17. doi: 10.1111/nep.12934 |
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2016 Journal Article Polypoid change of the glomerular basement membrane in a child with steroid resistant nephrotic syndrome and ARHGAP24 mutation: a case reportFrancis, Anna, Burke, John, Francis, Leo, McTaggart, Steven and Mallett, Andrew (2016). Polypoid change of the glomerular basement membrane in a child with steroid resistant nephrotic syndrome and ARHGAP24 mutation: a case report. Open Urology & Nephrology Journal, 9 (1), 88-93. doi: 10.2174/1874303X01609010088 |
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2016 Journal Article KHA-CARI guideline recommendations for the diagnosis and management of autosomal dominant polycystic kidney diseaseRangan, Gopala K., Alexander, Stephen I., Campbell, Katrina L., Dexter, Mark A. J., Lee, Vincent W., Lopez-Vargas, Pamela, Mai, Jun, Mallett, Andrew, Patel, Chirag, Patel, Manish, Tchan, Michel C., Tong, Allison, Tunnicliffe, David J., Vladica, Philip and Savige, Judy (2016). KHA-CARI guideline recommendations for the diagnosis and management of autosomal dominant polycystic kidney disease. Nephrology, 21 (8), 705-716. doi: 10.1111/nep.12658 |
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2016 Journal Article Identifying and integrating consumer perspectives in clinical practice guidelines on autosomal-dominant polycystic kidney diseaseTong, Allison, Tunnicliffe, David J., Lopez-Vargas, Pamela, Mallett, Andrew, Patel, Chirag, Savige, Judy, Campbell, Katrina, Patel, Manish, Tchan, Michel C., Alexander, Stephen I., Lee, Vincent, Craig, Jonathan C., Fassett, Robert and Rangan, Gopala K. (2016). Identifying and integrating consumer perspectives in clinical practice guidelines on autosomal-dominant polycystic kidney disease. Nephrology, 21 (2), 122-132. doi: 10.1111/nep.12579 |
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2016 Journal Article A multidisciplinary renal genetics clinic improves patient diagnosisMallett, Andrew, Fowles, Lindsay F., McGaughran, Julie, Healy, Helen and Patel, Chirag (2016). A multidisciplinary renal genetics clinic improves patient diagnosis. Medical Journal of Australia, 204 (2), 58-59. doi: 10.5694/mja15.01157 |
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2015 Journal Article KHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Pharmacological ManagementMallett, Andrew, Lee, Vincent W., Mai, Jun Mai, Lopez-Vargas, Pamela and Rangan, Gopala K. (2015). KHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Pharmacological Management. Seminars in Nephrology, 35 (6), 582-589.e17. doi: 10.1016/j.semnephrol.2015.10.009 |
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2015 Journal Article KHA-CARI autosomal dominant polycystic kidney disease guideline: management of polycystic liver diseaseSavige, Judy, Mallett, Andrew, Tunnicliffe, David J. and Rangan, Gopala K. (2015). KHA-CARI autosomal dominant polycystic kidney disease guideline: management of polycystic liver disease. Seminars in Nephrology, 35 (6), 618-622. doi: 10.1016/j.semnephrol.2015.10.015 |
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2015 Journal Article KHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Psychosocial CareTong, Allison, Mallett, Andrew, Lopez-Vargas, Pamela and Rangan, Gopala K. (2015). KHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Psychosocial Care. Seminars in Nephrology, 35 (6), 590-594.e5. doi: 10.1016/j.semnephrol.2015.10.010 |
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2015 Journal Article KHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Genetic Testing for DiagnosisTchan, Michel, Savige, Judy, Patel, Chirag, Mallett, Andrew, Tong, Allison, Tunnicliffe, David J. and Rangan, Gopala K. (2015). KHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Genetic Testing for Diagnosis. Seminars in Nephrology, 35 (6), 545-549.e2. doi: 10.1016/j.semnephrol.2015.10.007 |
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2015 Journal Article KHA-CARI autosomal dominant polycystic kidney disease guideline: genetics and genetic counselingPatel, Chirag, Tchan, Michel, Savige, Judy, Mallett, Andrew, Tong, Allison, Tunnicliffe, David J. and Rangan, Gopala K. (2015). KHA-CARI autosomal dominant polycystic kidney disease guideline: genetics and genetic counseling. Seminars in Nephrology, 35 (6), 550-556. doi: 10.1016/j.semnephrol.2015.10.003 |
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2015 Journal Article KHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Management of Renal Stone DiseaseMallett, Andrew, Patel, Manish, Tunnicliffe, David J. and Rangan, Gopala K. (2015). KHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Management of Renal Stone Disease. Seminars in Nephrology, 35 (6), 603-606.e3. doi: 10.1016/j.semnephrol.2015.10.012 |
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2015 Journal Article Atypical haemolytic uraemic syndrome treated with the complement inhibitor eculizumab: the experience of the Australian compassionate access cohortMallett, A., Hughes, P., Szer, J., Tuckfield, A., Van Eps, C., Cambell, S. B., Hawley, C., Burke, J., Kausman, J., Hewitt, I., Parnham, A., Ford, S. and Isbel, N. (2015). Atypical haemolytic uraemic syndrome treated with the complement inhibitor eculizumab: the experience of the Australian compassionate access cohort. Internal Medicine Journal, 45 (10), 1054-1065. doi: 10.1111/imj.12864 |
